title: Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations.
abstract: Dystrophic epidermolysis bullosa is a group of inherited skin blistering disorders caused by mutations in the COL7A1 gene coding for type VII collagen. More than 500 different COL7A1 mutations have been detected in dystrophic epidermolysis bullosa to date. Clarification of genotype-phenotype correlations is of particular importance for the development of novel therapeutic approaches. Here we report a female patient with mild dystrophic epidermolysis bullosa harbouring two compound heterozygous COL7A1 mutations, namely the intronic splice site mutation c.3832-2A > G and the glycine substitution p.G1347W. Our data extend the current knowledge on genotype-phenotype correlations in dystrophic epidermolysis bullosa.
authors.affiliation: Department of Dermatology, University of Cologne, Kerpener Str. 62, 50937 Cologne, Germany.
authors.forename: Wibke
authors.initials: W
authors.lastname: von Bartenwerffer
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
authors.forename: Meral J
authors.initials: MJ
authors.lastname: Arin
authors.forename: Iliana
authors.initials: I
authors.lastname: Tantcheva-Poór
authors.forename: Alexander
authors.initials: A
authors.lastname: Kreuter
authors.forename: Kim
authors.initials: K
authors.lastname: Kremer
authors.forename: Tarek
authors.initials: T
authors.lastname: Arshah
authors.forename: Michael
authors.initials: M
authors.lastname: Hoffmann
authors.forename: Sabine A
authors.initials: SA
authors.lastname: Eming
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
authors.forename: Thomas
authors.initials: T
authors.lastname: Krieg
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.forename: Karin
authors.initials: K
authors.lastname: Hartmann
mesh_terms: D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D012867:Skin / Q000378:metabolism
chemical_list: D024143:Collagen Type VII